A Patient with 22q11.2 Deletion Syndrome: Case Report

22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2...

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Detalles Bibliográficos
Autores principales: Eryılmaz, Sema Kabataş, Baş, Firdevs, Satan, Ali, Darendeliler, Feyza, Bundak, Rüveyde, Günöz, Hülya, Saka, Nurçin
Formato: Texto
Lenguaje:English
Publicado: Galenos Publishing 2009
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005648/
https://www.ncbi.nlm.nih.gov/pubmed/21274400
http://dx.doi.org/10.4008/jcrpe.v1i3.46

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3005648/
https://www.ncbi.nlm.nih.gov/pubmed/21274400
http://dx.doi.org/10.4008/jcrpe.v1i3.46

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